Variant report

Variant	esv3339250
Chromosome Location	chr5:117847453-117851051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549483933	chr5:117847456-117847457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190255947	chr5:117847478-117847479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375011990	chr5:117847507-117847508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546012625	chr5:117847590-117847591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117688353	chr5:117847595-117847596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs66964706	chr5:117847601-117847602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532235012	chr5:117847611-117847612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72795512	chr5:117847613-117847614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573210703	chr5:117847645-117847646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112452498	chr5:117847661-117847662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61476210	chr5:117847677-117847678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548402127	chr5:117847766-117847767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567634303	chr5:117847785-117847786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562159937	chr5:117847791-117847792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116946524	chr5:117847811-117847812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556553244	chr5:117847837-117847838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62372407	chr5:117847863-117847864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539080794	chr5:117847869-117847870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551087358	chr5:117847875-117847876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549450747	chr5:117847891-117847892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559284150	chr5:117847956-117847957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563073340	chr5:117847961-117847962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531977729	chr5:117847964-117847965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35740170	chr5:117847992-117847993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144082966	chr5:117848023-117848024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182139131	chr5:117848044-117848045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146825209	chr5:117848086-117848087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574415135	chr5:117848093-117848094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76016455	chr5:117848098-117848099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4308505	chr5:117848099-117848100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531979515	chr5:117848107-117848108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546661414	chr5:117848121-117848122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557231347	chr5:117848126-117848127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533437722	chr5:117848134-117848135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140599310	chr5:117848155-117848156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534924380	chr5:117848159-117848160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551798536	chr5:117848174-117848175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374169123	chr5:117848270-117848271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559207933	chr5:117848332-117848333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528417349	chr5:117848383-117848384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141751127	chr5:117848465-117848466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548055218	chr5:117848510-117848511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187768384	chr5:117848519-117848520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568252343	chr5:117848531-117848532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192391617	chr5:117848564-117848565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550293115	chr5:117848622-117848623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75242144	chr5:117848636-117848637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183902205	chr5:117848637-117848638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559019131	chr5:117848645-117848646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138147203	chr5:117848652-117848653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117841200-117859200	Weak transcription	Left Ventricle	heart

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